Analysis of frequency and molecular genetics of Jk (a-b-) phenotype among blood donors from Jining area / 中华医学遗传学杂志

OBJECTIVE@#To screen for Jk(a-b-) phenotype among blood donors from Jining area and explore its molecular basis to enrich the rare blood group bank for the region.@*METHODS@#The population who donated blood gratuitously at Jining Blood Center from July 2019 to January 2021 were selected as the study subjects. The Jk(a-b-) phenotype was screened with the 2 mol/L urea lysis method, and the result was confirmed by using classical serological methods. Exons 3 to 10 of the SLC14A1 gene and its flanking regions were subjected to Sanger sequencing.@*RESULTS@#Among 95 500 donors, urea hemolysis test has identified three without hemolysis, which was verified by serological method as the Jk(a-b-) phenotype and demonstrated no anti-Jk3 antibody. The frequency of the Jk(a-b-) phenotype in Jining area is therefore 0.0031%. Gene sequencing and haplotype analysis showed that the genotypes of the three samples were JK*02N.01/JK*02N.01, JK*02N.01/JK-02-230A and JK*02N.20/JK-02-230A, respectively.@*CONCLUSION@#The splicing variant of c.342-1G>A in intron 4, missense variants of c.230G>A in exon 4, and c.647_ 648delAC in exon 6 probably underlay the Jk(a-b-) phenotype in the local population, which is different from other regions in China. The c.230G>A variant was unreported previously.

The Establishment and Application of Flow Cytometry on the Detection of Jka Antigen in Kidd Blood Group / 中国实验血液学杂志

OBJECTIVE@#To establish a based method flow cytometry to identify the antigen Jka in human red blood cells (RBCs) and verify its accuracy.@*METHODS@#A total of 96 blood samples were enrolled in the study randomly from the voluntary blood donors in Shenzhen Blood Center. The RBCs were incubated with IgG anti-Jka primary antibody, and then labeled with the secondary antibody anti-IgG-Alexa Fluor 647. The fluorescence histograms of each sample were obtained by flow cytometry. Serological agglutination test was used to compare the accuracy of flow cytometry in the detecting of antigen Jka, while PCR-SSP and gene sequencing genotyping were used to verify the accuracy of flow cytometry in the detecting of the antigen in human RBCs.@*RESULTS@#The results of flow cytometry for antigen Jka in human RBCs were consistent with those from serological tests. Samples that demonstrated higher serological agglutination intensity also showed higher fluorescence activity, which indicate more stronger of Jka antigen. The sensitivity of flow cytometry was higher than that of serological test; especially in distinguish Jka weak and negative samples. Flow cytometric results of all samples were consistent with the genotyping results, which confirmed the accuracy of flow cytometry.@*CONCLUSION@#The study established a new flow cytometry-based method successfully for the identification of Jka antigen of Kidd blood group in human RBCs. The Kidd blood group antigen Jka of different intensities can be accurately distinguished by the technique.

Genetic Polymorphism of Antigens in Twelve Rare Blood Group Systems of Li Nationality in Hainan Province / 中国实验血液学杂志

OBJECTIVE@#To explore the distribution characteristics of main antigen gene frequencies of Duffy,Diego,Kidd,Dombrock,MNS,Lutheran,Kell,Colton,Scianna,Yt,Knops and Indian in red blood cell blood group system of Li nationality in Hainan Province.@*METHODS@#Antigens in twelve rare blood group systems of 214 Li people in Hainan Province were genotyped and analyzed by polymerase chain reaction-sequence specific primers (PCR-SSP).@*RESULTS@#The gene frequency of antigens in twelve rare blood group systems of 214 Li people in Hainan Province including: the gene frequency of Duffy blood group system: fy@*CONCLUSION@#The genetic distribution and genetic status in twelve rare blood group systems of Li nationality in Hainan Province are relatively stable. The gene distribution of Duffy, Diego, Kidd, Drombrock, MNS and Lutheran blood group systems are polymorphic and show unique distribution characteristics compared with other regions and different nationalities. The gene frequency distribution of Kell、Colton、Scianna、Yt、Knops、Indian blood group systems are monomorphic.

Lack of association between Kidd blood group system and chronic kidney disease

Abstract Background: The Kidd blood group system has three antigens, Jka, Jkb and Jk3, found on red blood cells and on endothelial cells of the inner lining of blood vessels in the renal medulla. These are known as urea transporter B (UT-B). Researchers have found that individuals carrying the Jk(a − b−) or Jk-null (UT-B null) phenotypes have a lower urine-concentrating capability and risk of severe renal impairment. This study evaluated the distribution of the Kidd phenotypes in patients with chronic kidney disease and a possible association of Kidd antigens with the development of renal disease. Methods: Jka and Jkb antigens were phenotyped using the gel column agglutination test (ID-cards Bio-RAD) in 197 patients with chronic kidney disease and 444 blood donors, as the control group. The phenotype and antigen frequencies between patients and controls were evaluated using the Chi-square method with Yates correction and logistic regression after adjustments for gender and age. Results: No differences were observed between the Kidd phenotypes frequency distribution between patients with chronic kidney disease and blood donors [Jk(a − b+) = 22.3% and 27.2%; Jk(a + b−) = 30.5% and 24.3%; Jk(a + b+) = 47.25% and 48.4%, respectively]. Conclusion: The distribution of Kidd phenotypes found in the studied population is expected for Caucasians; Jka and Jkb antigens and phenotypes were not found to be related to susceptibility for chronic kidney disease.

Frequencies of polymorphisms of the Rh, Kell, Kidd, Duffy and Diego systems of Santa Catarina, Southern Brazil

Background Red blood cell genes are highly polymorphic with the distribution of alleles varying between different populations and ethnic groups. The objective of this study was to investigate gene polymorphisms of blood groups in the state of Santa Catarina, Southern Brazil. Methods Three hundred and seventy-three unrelated blood donors and 31 transfusion-dependent patients were evaluated to investigate polymorphisms of the Rh, Kell, Duffy, Kidd, and Diego blood group systems in a population from the state of Santa Catarina. The subjects, from seven regions that comprise the blood-banking network of the state, were assessed between August 2011 and March 2014. The genotypes of the Rh, Kell, Duffy, Kidd, and Diego systems were determined using the restriction fragment length polymorphism-polymerase chain reaction and allele-specific polymerase chain reaction techniques. Results The genotype frequencies in this study were significantly different when populations from different regions of Santa Catarina were compared. Furthermore, there were also significant differences in the genetic frequencies compared to other Brazilian states. The genotype frequencies of the Kell and Kidd blood groups are similar to European populations from Naples, Italy and Zurich, Switzerland. Conclusion This article reports for the first time the frequency of polymorphisms of blood group systems in blood donors from Santa Catarina, Southern Brazil.

A Case of Hemolytic Transfusion Reaction Attributable to Anti-Jk(b) Abolished in the Enzyme Phase Reaction / 대한수혈학회지

We report a case of an intravascular hemolytic reaction attributable to anti-Jk(b) antibodies that were not detected using an enzyme phase antibody identification test. A 61-year-old male who had received two units of red blood cells was admitted to the emergency room because his urine was dark. LISS/Coombs gel column agglutination tests suggested the presence of anti-Jk(b) and anti-E antibodies. However, his serum was negative for the Jk(b) antigen when an enzyme phase test was performed. A positive reaction was evident, however, when EDTA-treated plasma was tested; this excluded any possible complement-mediated reaction. The patient was diagnosed with an intravascular hemolytic transfusion reaction, caused by anti-Jk(b), and was later discharged without specific complications after receiving antigen-negative blood transfusions.

Genotyping for Kidd, Kell, Duffy, Scianna, and RHCE blood group antigens polymorphisms in Jiangsu Chinese Han / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Molecular testing is more precise compared to serology and has been widely used in genotyping blood group antigens. Single nucleotide polymorphisms (SNPs) of blood group antigens can be determined by the polymerase chain reaction with sequence specific priming (PCR-SSP) assay. Commercial high-throughput platforms can be expensive and are not approved in China. The genotype frequencies of Kidd, Kell, Duffy, Scianna, and RhCE blood group antigens in Jiangsu province were unknown. The aim of this study is sought to detect the genotype frequencies of Kidd, Kell, Duffy, Scianna, and RhCE antigens in Jiangsu Chinese Han using molecular methods with laboratory developed tests.</p><p><b>METHODS</b>DNA was extracted from EDTA-anticoagulated blood samples of 146 voluntary blood donors collected randomly within one month. Standard serologic assay for red blood cell antigens were also performed except the Scianna blood group antigens. PCR-SSP was designed to work under one PCR program to identify the following SNPs: JK1/JK2, KEL1/KEL2, FYA/FYB, SC1/SC2, C/c and E/e.</p><p><b>RESULTS</b>Serologic antigen results were identical to the phenotypes that were predicted from genotyping results. The allele frequencies for Jk*01 and Jk*02 were 0.51 and 0.49, respectively; for Fy*A and Fy*B 0.94 and 0.06; for RHCE*C and RHCE*c 0.68 and 0.32; and for RHCE*E and RHCE*e 0.28 and 0.72. Among 146 blood donors, all were KEL*02/KEL*02 and SC*01/SC*01, indicating allele frequencies for KEL*02 and SC*01 close to 1.00.</p><p><b>CONCLUSIONS</b>The use of PCR-SSP working under the same condition for testing multiple antigens at the same time is practical. This approach can be effective and cost-efficient for small-scale laboratories and in developing counties. These molecular tests can be also used for identifying rare blood types.</p>

Investigation of family pedigree rare blood group of JK(a-b-) phenotype / 中国实验血液学杂志

The purpose of this study was to find the rare individual JK(a-b-) phenotype of proband family and explore its molecular mechanism and the genetic background, in order to provide base for searching compatible donor to blood transfusion of the individuals with rare JK(a-b-) phenotype. Urea lysis test was used to screen the JK(a-b-) phenotype and results were confirmed with serological method. The genotypes were detected with PCR-SSP. The 4-11 exons and their flanking intron regions of JK gene were amplified and sequenced. The results showed that her elder brother has a same phenotype JK(a-b-) and genotypes JK(a)/JK(b) with proband. The phenotype and genotypes of their parent is JK (a+b-) and JK(a)/JK(b), respectively; and the younger sister's is JK (a+b-) and JK(a)/JK(a). Acceptor site of intron 5 3' g > a mutation was detected in proband and her elder brother, which may cause the JK(a-b-) phenotype of proband and her elder brother. There is g/a and a at this site in their parent and younger sister, respectively. Additionally, the SNP (ncbi:rs8090908) a > g at nt-99 in intron 3 was found in proband and her elder brother, it needs to be explored whether the SNP is related to JK(a-b-) phenotype. This SNP was not found in their parent and younger sister. This JK(a-b-) phenotype abides by the rule of dominant inheritance in the family, suggesting that there is higher probability to find homology phenotype and genotype by investigating in their family, especially in their siblings.

Detection of hematopoietic chimera by real-time fluorescent quantitative PCR with erythrocyte Kidd blood group gene / 中国实验血液学杂志

This study was aimed to establish the real-time fluorescent quantitative PCR (RT-qPCR) with erythrocyte Kidd blood group gene for detecting the hematopoietic chimera and to investigate the feasibility of this method. The TaqMan MGB probes and special primers were designed on basis of difference of erythrocyte Kidd blood group alleles, the hematopoietic chimerism was detected by RT-qPCR, the DNA chimerism was simulated by means of dilution of multiple proportions, and the sensitivity analysis was performed. The results showed that the RT-qPCR with erythrocyte Kidd blood group gene could effectively distinguish JK*A and JK*B alleles. There was no significant difference between the theoretic value and the practical measured value by this method (P > 0.05). As 156 donor's cells could be discriminated from 10(4) chimeric cells, this method may effectively detect donor's cells with correlation coefficient 0.998. It is concluded that the established RT-qPCR with erythrocyte Kidd blood group gene shows the feasibility for quantitative detection of hematopoietic chimera, and may be used to quantitatively detect chimera in a certain range.

DNA sequence analysis of Jk(a-b-) phenotype of blood donors from Chengdu / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the molecular genetics characteristics of Jk(a-b-) phenotype of blood donors from Chengdu.</p><p><b>METHODS</b>Exons 4-11 of the JK genes and their flanking intronic regions for 8 Jk(a-b-) samples were analyzed with PCR-sequence specific primers (PCR-SSP) and DNA sequencing.</p><p><b>RESULTS</b>All samples had AA genotype at position 838 of exon 9 predicting a null Jk(b)-like alleles. Sequence analysis has revealed 4 mutant alleles, which included: (1) IVS5-1G>A, A to G at position 588 (Pro196Pro) of exon 7; (2) G to A at position 896 (Gly299Glu) of exon 9, A to G at position 588 (Pro196Pro) of exon 7; (3) IVS5-1G>A, C>A at position 222 (Asn74Lys) of exon 5, A to G at position 499 (Met167Val) of exon 7, A to G at position 588 (Pro196Pro) of exon 7; and (4) IVS5-1G>A, G to A at position 896 (Gly299Glu) of exon 9, A to G at position 588 (Pro196Pro) of exon 7.</p><p><b>CONCLUSION</b>IVS5-1G>A, C to A at position 222 (Asn74Lys) of exon 5 and G to A at position 896 (Gly299Glu) of exon 9 might have been the molecular genetic mechanisms underlying Jk(a-b-) phenotype of the selected blood donors.</p>

Genetic polymorphisms of Rh, Kell, Duffy and Kidd systems in a population from the State of Paraná, southern Brazil

BACKGROUND: Red blood group genes are highly polymorphic and the distribution of alleles varies among different populations and ethnic groups. AIM: To evaluate allele polymorphisms of the Rh, Kell, Duffy and Kidd blood group systems in a population of the State of Paraná METHODS: Rh, Kell, Duffy and Kidd blood group polymorphisms were evaluated in 400 unrelated blood or bone marrow donors from the northwestern region of Paraná State between September 2008 and October 2009. The following techniques were used: multiplex-polymerase chain reaction genotyping for the identification of the RHD gene and RHCE*C/c genotype; allele-specific polymerase chain reaction for the RHDΨ and restriction fragment length polymorphism polymerase chain reaction for the RHCE*E/e, KEL, FY-GATA and JK alleles. RESULTS: These techniques enabled the evaluation of the frequencies of Rh, Kell, Duffy and Kidd polymorphisms in the population studied, which were compared to frequencies in two populations from the eastern region of São Paulo State. CONCLUSION: The RHCE*c/c, FY*A/FY*B, GATA-33 T/T, JK*B/JK*B genotypes were more prevalent in the population from Paraná, while RHCE*C/c, FY*B/FY*B, GATA-33 C/C, JK*A/JK*B genotypes were more common in the populations from São Paulo.

A Fatal Case of Severe Hemolytic Disease of Newborn Associated with Anti-Jk(b)

The Kidd blood group is clinically significant since the Jk antibodies can cause acute and delayed transfusion reactions as well as hemolytic disease of newborn (HDN). In general, HDN due to anti-Jk(b) incompatibility is rare and it usually displays mild clinical symptoms with a favorable prognosis. Yet, we apparently experienced the second case of HDN due to anti-Jk(b) with severe clinical symptoms and a fatal outcome. A female patient having the AB, Rh(D)-positive boodtype was admitted for jaundice on the fourth day after birth. At the time of admission, the patient was lethargic and exhibited high pitched crying. The laboratory data indicated a hemoglobin value of 11.4 mg/dL, a reticulocyte count of 14.9% and a total bilirubin of 46.1 mg/dL, a direct bilirubin of 1.1 mg/dL and a strong positive result (+++) on the direct Coomb's test. As a result of the identification of irregular antibody from the maternal serum, anti-Jk(b) was detected, which was also found in the eluate made from infant's blood. Despite the aggressive treatment with exchange transfusion and intensive phototherapy, the patient died of intractable seizure and acute renal failure on the fourth day of admission. Therefore, pediatricians should be aware of the clinical courses of hemolytic jaundice due to anti-Jk(b), and they should be ready to treat this disease with active therapeutic interventions.

Asociación entre grupo sanguíneo Kidd y malformaciones congénitas / Association between Kidd blood group and congenital malformations

Background: Since the discovery of blood groups, an association between these genetic polymorphisms and pathological phenotypes has been searched, looking for factors involved in the pathogenesis of diseases or biological population mechanisms that maintain these polymorphisms. In previous reports, we have described some associations between erythrocytic genetic marker segregation and the presence of congenital malformations. Aim: To explore the association between Kidd blood group and congenital malformations. Patients and methods: One hundred twenty two malformed newborns and their mothers and 136 normal newborns, seen at the Clinical Hospital of the University of Chile, were studied. Results: Kidd blood group segregation distortions were found among male malformed newborns, that were not present in normal newborns. Among mothers of both groups of newborns, a paucity of heterozygous for this system was found. Conclusions: The association found between a blood group and congenital malformations, allows to state that malformed children have a different genetic background, when compared to normal children

Poblaciones costeras de Chile: marcadores genéticos en cuatro localidades / Coastal Chilean populations: genetic markers in 4 locations

Background: Historical and anthropological data suggest the presence of descendents of Changos, Cuncos, Chonos and Yamanas, South American indian populations, in certain Chilean coastal villages. Aim: To assess the degree of South American indian admixture in Chilean coastal villages using protein markers, to complete the assessment of human biological diversity in Chile. Subjects and methods: AB0, Rh, MNS, Duffy and Kidd blood group systems were assessed in 47, 48, 55 and 24 individuals from Paposo, Carelmapu, Laitec and Ukika respectively. Phenotypic and gene frequencies were calculated. The degree of South American indian admixture was estimated from the AB0*0 allele and Rh*dce haplotypes. Results: High frequencies of AB0*0, Fy*a, Jk*b alleles, Dce and Ms haplotypes were found in all villages, consistent with the pattern expected for South AmericanAboriginal populations. The highest presence of South American indian admixture was present in Laitec with 80 per cent and in Ukika with 74 per cent. The figures for Paposo and Carelmapu were 60 and 65 per cent respectively. Conclusions: Accordin g to South American indian admixture estimates, the genetic isolation of coastal populations is lower than that of inland subjects, suggesting thatsea proximity facilitates gene flow

Asociación entre heterocigocidad materna para cinco grupos sanguíneos y éxito reproductivo / Association between maternal heterozygosity for five blood groups and reproductive success

Background: In man, blood groups are polymorphic genetic systems. Maternal fetal incompatibility phenomena should lead to an elimination rather than a maintenance of these polymorphisms. Apossible mechanism that could explain the persistence of these polymosphisms in natural populations is a selective reproductive advantage of heterozygous individuals. Aim: To explore the relationship between maternal heterozygosity for five blood grups and some obstetrical variables related to gestational success. Material and methods: Using a case control design, to every mother giving birth to a malformed child a consecutive mother, whose offspring was normal, was assigned as control. All women were typified for ABO, Rh, kidd, MNSs and Duffy blood groups. Results: Two hundred two women were studiend. There was only one stillbirth, born from a heterozygous mother for all analyzed loci. Mothers that were heterozygous or homozygous for all loci had a higher frequency of malformed children. Women homozygous for all loci had a higher frequency of living offspring than the rest of the sample. Conclusions: Heterozygous mothers for these genetic systems have a reproductive disadvantage

Sistema Kidd: Distribución de los fenotipos y genotipos en la población de Costa Rica / Kidd system: Distribution of the phenotype and genotypes in the population of Costa Rica

Con el objetivo de determinar la distribución de los fenotipos y genotipos del sistema Kidd (Jk), se analizaron un total de 872 personas adultas sin aparente grado de consanguinidad, que se presentaron al Laboratorio de Inmunohematología del Organismo de Investigación Judicial, entre 1984 y 1992, para invastigar casos de paternidad discutida. el tamaño de la muestra se determinó de acuerdo con la fórmula n=z2pq/d2 y la frecuencia alélica por el método de conteo de genes. La distribución obtenida para el fenotipo Jk (a+b) es de 27,4 por ciento, para el Jk(a+b+) es de 52,6 por ciento y para el Jk (a-b+) es de 20,0 por ciento, muy semejante a la establecida por Gaensslen y col. en la población hispana de los Estados Unidos. Para el gen JKa encontramos una frecuencia de 0,5372 y para el 0,4627. Por Chi cuadro se determinó que la población estudiada se encuentra en equilibrio de Hardy Weinberg.

Sistema Kidd en la población aymara / Kidd system in aymara population

Los grupos sanguíneos constituyen una buena forma de medir factores genéticos en una población habiéndose demostrado una gran variabilidad en los diferentes grupos étnicos a nivel mundial. El sistema Kidd, en primera instancia, fue un sistema sencillo de dos antígenos, Jka y Jkb. El descubrimiento del poco frecuente fenotipo Jk(a-b), también conocido como fenotipo Hawai, llevó a postular la existencia de un tercer gen, Jk. Los anticuerpos de este sistema son el Anti-Jka y el Anti-Jkb. En este trabajo se estudió el el sistema Kidd en la población aymara, grupo étnico que habita en el sector andino de la I Región de Chile. La muestra consistió en 200 individuos aymaras de ambos sexos. Los antígenos del sistema Kidd fueron determinados mediante el método de antiglobulina indirecta, con anti Jkb y anti Jkb comerciales. Las frecuencias génicas encontradas fueron: Jka(p)=0.182; Jkb(q)=0.660 y Jk(r)=0.158. Los resultados obtenidos en la población aymara, muestran una gran diferencia en las frecuencias génicas, al ser comparadas con las reportadas para la raza blanca, en la cual no está descrita la existencia del gen Jk